2 + Blood Tests/1 - Biopsy = ?

[TinyBubbles]

Due to many symptoms, including failure to thrive (starting as an infant), distended abdomen, frequent diarrhea, fecal and urinary incontinence (still!), stomach aches, and many behavioral problems associated with ASD, I have suspected Celiac Disease in my 7 year old son. We put him on the gluten free diet in October of 2006, and had his blood tested in December of the same year. The test came back positive, even though he had been off of wheat for two months. After discovering that he should have actually been ON wheat for his blood test to be accurate, we put him back on wheat in July of 2007 and then had a second test done in October of that year. That test was negative. We kept him on the wheat and finally had a third test done, which was positive. We just had an endoscopy (GDE) performed last week, and, although the doctor performing the procedure told us that her visuals showed decreased folds in his upper duodenum, the biopsy results were negative. The doctor tells us her work with us is done, and wishes us "good luck". She said we have the option of retesting his blood every 6-12 months, and, should he develop "new" symptoms, we should repeat the TTG and Serum IgA tests.

My husband has been against the wheat-free diet from the start, and denied that our son's behavior and symptoms improved during the two months he was wheat free. Although I witnessed a great improvement, it was because of great pressure from my husband that I allowed our son to go back on wheat and undergo the second blood test. When the second blood test proved negative, after many arguments, my husband acquiesced to giving our son one more blood test. We ordered a more detailed blood test our third time around, which was positive, and showed signs of malabsorption and inflamation . The biopsy, however, showed negative results for Celiac Disease. My husband feels vindicated that the biopsy, being considered the "gold standard" was negative. To me, this is not about vindication, it is about figuring out how to get our son healthy. I think it is important to note that the fecal sample showed signs of malapsorption and the visual from the EGD showed decreased folds in his upper duodenum. Does anyone have any input on this?

For more info, here are the actual results of the blood tests, with one stool sample:

To date, our son has had 3 blood tests performed; #1 on 12/05/06, #2 on 10/03/07, and #3 on 03/04/08.

#1.

12/05/06 his result was 8.4 = positive result (REFERENCE INTERVAL: Tissue Transglutaminase Antibody, IgA

AGE Negative Positive

0-1 year Less than 5.0 AU 5.0 AU or greater

2 yrs & older Less than 7.0 AU 7.0 AU or greater )

#2.

10/03/07 his result was 3.7 = negative result (REFERENCE INTERVAL: Tissue Transglutaminase Antibody, IgA

AGE Negative Positive

0-1 year Less than 5.0 AU 5.0 AU or greater

2 yrs & older Less than 7.0 AU 7.0 AU or greater )

#3.

03/04/08

We asked for a more detailed group of tests to be done on this draw, as follows:

His IGA was 203 = high (Reference range: 33 to 200, Unit: mg/dL )

His AST was 49 = high (Ref range: 15-40 Units: U/L )

His CRP (not for CV risk) was 2.6 = high (Ref range: <0.8 Units:mg/dL )

Tissue Transglutaminase Ab, IgA was 26 = positive result (REFERENCE INTERVAL: Tissue Transglutaminase Antibody, IgA

19 Units or less = Negative Result - No significant level of detectable IgA antibodies against human tTG.

20 Units or greater = Positive - Presence of IgA antibodies)

NOTE, this particular test had a different reference interval than the prior tests.

Vitamin E was 12.8 = high (Reference range: 5.5 to 9.0 , Unit: mg/L)

Fecal Sample

Fecal Split fat result = INCREASE

Any insight as to what happened or what we should do now would be VERY much appreciated. I have been through 3 pediatricians and am currently seeing a "family doctor" for my son. The first two pediatricians doubted that anything was wrong with my son, and refused to order him a blood test. The third pediatrician, although she agreed to order the blood test, failed to tell me to keep him on gluten for the blood test, and then, once it was positive, she failed to suggest a biopsy. Instead, she suggested that I buy a book on Celiac Disease. I changed to a new doctor this year, in the hopes that she would better be able to guide us in diagnosing our son. She doesn't seem to have the answers either. The gastroenterologist who did the biopsy has told us there is nothing more she can do for us. I am not sure where to turn, especially since my husband is so reluctant (well, actually he is adamantly against) pursuing the issue.

Thank you

[lizard00]

Hello and welcome to the forum!!

I am so sorry to hear about your son's situation. I'm sure other mothers with Celiac children will chime in with words of wisdom, but right now I can only offer what I know from myself.

First of all, your husband needs to stop believing so much in the words of MDs. Does he enjoy seeing your son be sick??? Celiac is a disease that displays in so many ways, and the testing is still not up to par for diagnosis. It is believed to be HUGELY underdiagnosed for those reasons. There is a huge lack of responsibility on the part of any doctor who would tell you that she was done with you and good luck. I am so happy to hear you are looking for another doctor. Run fast and far away from that one. I don't know where geographically you are, but there are many threads on here with doctor suggestions.

And your son's blood test is indicative of Celiac. It is not uncommon for numbers to be negative or biopsies to be negative. The small intestine is very convoluted and long, so it's entirely possible that the doctor didn't find a damaged spot. You had taken him off the diet, and children heal pretty fast, so he could have biopsied an undamaged spot, which is what it sounds like.

And my last question- did your son stop having accidents?? To win your argument, you must use the physical improvements. Things people cannot argue with. Did he start growing? Did the abdomen go down? Use your measurables. No one, not even your husband, can argue with those. And you're right, this is not about vindication. Who cares who's right as long as someone figures it out.

[nora-n]

The docctor doing the scope on my daughter called the others to see, as her intestine clearly was abnormal and loked celiac. He took two samples and onely one was checked by the pathologist and he said it was normal. She got a diagnosis anyway because they know that pathologists can be just awfully useless, a because of her cleas symptoms off and onn gluten.

Sha was back on gluten for six weeks.

It may take longer time to get cliear biopsy results for celiac.

And, I did read on the alt.support.celiac newsgroup some years ago that they advocated sending the slide for a second opinion, they recommended the U. of Maryland but i amnot sure. They diagnose based on symptoms and increased Intraephitelial Leucocytes. Other pathologists may even demand total absence of villi for a diagnosis.

nora

[ravenwoodglass]

"We just had an endoscopy (GDE) performed last week, and, although the doctor performing the procedure told us that her visuals showed decreased folds in his upper duodenum, the biopsy results were negative"

The biospy may have been negative but the decrease in the folds is also indicative of celiac.

From the New England Journal of Medicine-

"Endoscopic demonstration of loss of duodenal folds in the diagnosis of celiac disease"

Among 873 patients undergoing upper gastrointestinal endoscopy for various reasons over a two-year period, four had a loss of Kerckring's folds in the descending duodenum. Endoscopic duodenal biopsy in all four patients revealed subtotal villous atrophy due to celiac disease. We undertook a prospective study to evaluate the extent to which this finding predicted celiac disease in 65 consecutive patients referred for intestinal biopsy. Duodenal folds were absent or markedly decreased in 15 of 17 patients with subtotal villous atrophy and in 8 of 48 patients with partial villous atrophy or normal duodenal mucosa, giving a sensitivity of 88 percent and a specificity of 83 percent for this endoscopic finding with respect to celiac disease. We recommend that all patients undergoing upper gastrointestinal endoscopy be examined for the loss or reduction of duodenal folds and, should this be found, that the examination include duodenal biopsy. The value of this procedure as an aid in the diagnosis of celiac disease should be particularly great in patients with minimal, transient, or unrelated symptoms

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From the European Journal

"Conclusions: Despite a still open controversy on the accuracy of endoscopic markers in the diagnosis of coeliac disease, we have found that in subjects not suspected for coeliac disease and undergoing an upper gastrointestinal endoscopy for other reasons, attention to the endoscopic pattern could facilitate the identification of a relevant number of cases."

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Your son IMHO needs the diet, I really hope you can get your husband on board before permanent damage is done to his brain or other organs.